MAP3K1
mitogen-activated protein kinase kinase kinase 1
Summary
The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]
Known Variants265 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs72758038 | 5:56,110,684 | C/A | — | benign |
| rs6885541 | 5:56,110,857 | G/C | — | benign |
| rs72758040 | 5:56,110,937 | G/C | — | benign |
| rs13356762 | 5:56,110,992 | G/T | — | benign |
| rs11739344 | 5:56,111,087 | A/C | — | benign |
| rs1009619802 | 5:56,111,411 | C/T | — | uncertain significance |
| rs2530790408 | 5:56,111,413 | G/C | — | uncertain significance |
| rs759046760 | 5:56,111,415 | G/A | — | likely benign |
| rs1745920039 | 5:56,111,432 | C/T | — | uncertain significance |
| rs765282250 | 5:56,111,444 | C/G | — | conflicting classifications of pathogenicity |
| rs192120973 | 5:56,111,445 | G/A | — | benign |
| rs1239608306 | 5:56,111,452 | A/G | — | likely benign |
| rs1222047861 | 5:56,111,458 | A/G | — | likely benign |
| rs949301616 | 5:56,111,465 | C/T | — | uncertain significance |
| rs185050655 | 5:56,111,481 | C/T | — | benign |
| rs757493757 | 5:56,111,483 | G/T | — | uncertain significance |
| rs1581198964 | 5:56,111,486 | G/A | — | uncertain significance |
| rs971549264 | 5:56,111,489 | C/A | — | likely benign |
| rs2530790998 | 5:56,111,500 | A/G | — | uncertain significance |
| rs1051867310 | 5:56,111,538 | G/T | — | uncertain significance |
| rs745954108 | 5:56,111,543 | G/A | — | uncertain significance |
| rs1050828981 | 5:56,111,561 | G/A | — | uncertain significance |
| rs769918068 | 5:56,111,563 | G/A | — | uncertain significance |
| rs189140884 | 5:56,111,565 | G/A | — | benign |
| rs1423534461 | 5:56,111,585 | T/G | — | conflicting classifications of pathogenicity |
| rs1324295780 | 5:56,111,594 | T/G | — | uncertain significance |
| rs1351743738 | 5:56,111,596 | C/A | — | uncertain significance |
| rs886480221 | 5:56,111,597 | G/A | — | uncertain significance |
| rs774797086 | 5:56,111,599 | A/G | — | uncertain significance |
| rs2111726323 | 5:56,111,601 | T/C | — | likely benign |
| rs560095837 | 5:56,111,628 | G/C | — | conflicting classifications of pathogenicity |
| rs572205361 | 5:56,111,633 | T/C | — | benign |
| rs542526689 | 5:56,111,634 | C/T | — | benign |
| rs1237362975 | 5:56,111,648 | C/T | — | uncertain significance |
| rs1284602674 | 5:56,111,649 | A/T | — | likely benign |
| rs756981135 | 5:56,111,654 | C/T | — | uncertain significance |
| rs1188647175 | 5:56,111,661 | C/G | — | likely benign |
| rs780949247 | 5:56,111,672 | C/T | — | uncertain significance |
| rs193032766 | 5:56,111,673 | G/A | — | likely benign |
| rs945699723 | 5:56,111,677 | C/T | — | uncertain significance |
| rs1561156589 | 5:56,111,687 | C/G | — | uncertain significance |
| rs1334509281 | 5:56,111,693 | C/G | — | benign |
| rs531377824 | 5:56,111,704 | G/A | — | benign |
| rs1039542324 | 5:56,111,708 | C/G | — | likely benign |
| rs1419329571 | 5:56,111,710 | G/C | — | uncertain significance |
| rs2111727408 | 5:56,111,711 | G/A | — | uncertain significance |
| rs1485123901 | 5:56,111,731 | C/T | — | uncertain significance |
| rs1170508270 | 5:56,111,732 | C/T | — | uncertain significance |
| rs1046935979 | 5:56,111,747 | C/T | — | likely benign |
| rs28710284 | 5:56,111,751 | G/C | — | benign |
| rs779217907 | 5:56,111,761 | G/A | — | uncertain significance |
| rs1581199357 | 5:56,111,774 | C/G | — | uncertain significance |
| rs1211899124 | 5:56,111,776 | G/A | — | uncertain significance |
| rs1053991933 | 5:56,111,781 | G/T | — | benign |
| rs557606535 | 5:56,111,794 | G/C | — | likely benign |
| rs1211934332 | 5:56,111,829 | C/T | — | likely benign |
| rs576080629 | 5:56,111,858 | C/T | — | conflicting classifications of pathogenicity |
| rs549721454 | 5:56,111,876 | C/T | — | conflicting classifications of pathogenicity |
| rs7731700 | 5:56,111,927 | C/T | — | benign |
| rs184508312 | 5:56,111,945 | C/T | — | benign |
| rs2432195 | 5:56,120,413 | C/T | intron variant | — |
| rs16886364 | 5:56,122,344 | A/G | intron variant | benign |
| rs726501 | 5:56,127,866 | G/A | intron variant | — |
| rs16886397 | 5:56,134,276 | A/G | regulatory region variant | benign |
| rs115779834 | 5:56,145,182 | A/T | — | — |
| rs832567 | 5:56,152,416 | C/A | — | benign |
| rs1179879604 | 5:56,152,443 | A/G | — | uncertain significance |
| rs1446304905 | 5:56,152,480 | G/A | — | uncertain significance |
| rs1454725137 | 5:56,152,492 | G/A | — | conflicting classifications of pathogenicity |
| rs1579750361 | 5:56,152,500 | A/G | — | pathogenic |
| rs387906788 | 5:56,152,510 | T/G | missense variant | pathogenic |
| rs372106846 | 5:56,152,520 | C/T | — | likely benign |
| rs781610164 | 5:56,152,541 | C/T | — | likely benign |
| rs768329767 | 5:56,152,558 | G/A | — | likely benign |
| rs1017226 | 5:56,153,392 | T/C | downstream gene variant | benign |
| rs1131692053 | 5:56,155,534 | T/A | — | pathogenic |
| rs1225149068 | 5:56,155,551 | C/G | — | uncertain significance |
| rs76711380 | 5:56,155,566 | G/A | — | uncertain significance |
| rs370060943 | 5:56,155,570 | A/G | — | uncertain significance |
| rs1747447963 | 5:56,155,594 | C/T | — | uncertain significance |
| rs55694258 | 5:56,155,618 | A/G | — | likely benign |
| rs56279792 | 5:56,155,628 | G/A | — | benign |
| rs2530894226 | 5:56,155,647 | G/A | — | uncertain significance |
| rs201579608 | 5:56,155,651 | G/A | — | likely benign |
| rs199726815 | 5:56,155,670 | C/T | — | benign |
| rs56069227 | 5:56,155,672 | A/G | — | benign |
| rs56160159 | 5:56,155,678 | C/T | missense variant | pathogenic |
| rs1382596856 | 5:56,155,694 | G/T | — | likely benign |
| rs73135067 | 5:56,155,751 | A/G | — | likely benign |
| rs369283296 | 5:56,160,555 | G/A | — | likely benign |
| rs2530908380 | 5:56,160,594 | G/T | — | uncertain significance |
| rs372575885 | 5:56,160,620 | A/G | — | benign |
| rs749900834 | 5:56,160,642 | C/T | — | likely benign |
| rs375262853 | 5:56,160,643 | G/A | — | conflicting classifications of pathogenicity |
| rs376808920 | 5:56,160,660 | A/T | — | conflicting classifications of pathogenicity |
| rs770264567 | 5:56,160,685 | A/G | — | conflicting classifications of pathogenicity |
| rs377226281 | 5:56,160,689 | G/T | — | uncertain significance |
| rs2530909025 | 5:56,160,732 | A/T | — | uncertain significance |
| rs373572109 | 5:56,160,741 | C/T | — | likely benign |
| rs1554034036 | 5:56,160,742 | G/A | — | pathogenic |
Showing 100 of 265 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.